Langer
Giedion SyndromeLanger Giedion syndrome (also called “Trichorhinophalangeal
syndrome, type II) is a genetic abnormality where a small piece of the long
arm of chromosome 8 is missing, which contains a number of regulatory
genes important for normal development. As a result there are characteristic facial
features, small stature, a mild to moderate learning disability, skin, hair and
bone abnormalities. Signs and symptoms
These
persons have a triangular shaped face as seen in this 5-year
old boy with a bulbar pear shape nose, sparse hair growth of the eye brows
in the lateral aspect (on each side). There are deformed and laterally protruding
(sideward projecting) earlobes. There are exostoses
(extra bone) of ribs, the shoulder blade (scapula) and long bones. The hands are
short and stubby, with deformed fingers and sometimes syndactyly.
Speech development is delayed and mental retardation is common. There is conductive
hearing loss. Joints are hyperextensible. There can be hormonal abnormalities
such as idiopathic hypoglycemia, diabetes, hypothyroidism or growth hormone deficiency.
There can also be urogenital abnormalities such as ureter bladder junction stenosis
or reflux, heart abnormalities and renal defects. Hair growth is sparse and hair
tends to be brittle and there can be extra skin folds. Typical findings on x-rays
are the cone-shaped epiphyses of the fingers. Diagnostic test
The microdeletions can be identified with fluorescent probes specific for
8q24.1 (Langer Giedion syndrome). Short metacarpal bones are apparent on X-rays
with cone-shaped epiphyses. Treatment As this is
a genetic syndrome, there is no treatment for this. These individuals will need
to live in a supportive environment and often end up in a specialized home that
is equipped to deal with these patients.
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